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Summary Literature (0)
DOID:0110999 - Joubert syndrome 4

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.

Synonyms: JBTS4

Echinobase Genes : nphp1

OMIM:609583 - joubert syndrome 4; jbts4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Joubert syndrome (is_a)